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Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation
Susan M Kirwin1, Kathy M Vinette, Sharon B Schwartz
1Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. skirwin@nemours.org
Objective:
To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation.
Design:
Case report.
Setting:
Clinical molecular diagnostics laboratory.
Patient(S):
Oocyte donor and individuals conceived with her oocytes.
Intervention(S):
Molecular testing.
Main Outcome Measure(S):
Detection of TAZ mutation.
Result(S):
Multiple individuals affected with Barth syndrome conceived from a single oocyte donor who is a carrier of a de novo TAZ mutation.
Conclusion(S):
We report multiple transmissions of Barth syndrome through a single oocyte donor with a de novo TAZ mutation.
